METHODS: In this experimental study, 45 children with cancer in the Northwest of Iran were investigated for LFS. DNA was extracted from the whole blood cells using the salting-out method. The region within the exons 5-8 of the TP53 gene has been replicated via Polymerase Chain Reaction (PCR) method. The PCR products were sent for Sanger sequencing, and finally, the data were analyzed by Chromas software.
RESULTS: In the studied probands, in 12 (26.67%) cases, polymorphisms in Exon 6 and Introns 6 and Intron 7 were identified, and no mutation was observed in exons 5-8 of the TP53 gene.
CONCLUSIONS: Our results show that there were no mutations in exons 5-8 of the TP53 gene as an indication of LFS possibility in these families. Further studies are needed to be done in a bigger population, and Next-Generation Sequencing (NGS) needs to be done to evaluate the whole genome of these patients to complete our data.
方法:在本实验研究中,伊朗西北部的45名癌症儿童接受了LFS调查。使用盐析法从全血细胞中提取DNA。TP53基因的外显子5-8内的区域已通过聚合酶链反应(PCR)方法复制。将PCR产物送去进行Sanger测序,最后,数据采用Chromas软件进行分析。
结果:在研究的先证者中,在12例(26.67%)中,鉴定了外显子6和内含子6和内含子7的多态性,在TP53基因的外显子5-8中未观察到突变。
结论:我们的结果表明,TP53基因的外显子5-8没有突变,这表明这些家族中LFS的可能性。需要在更大的人群中进行进一步的研究,需要进行下一代测序(NGS)来评估这些患者的整个基因组以完成我们的数据。